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Ask Stanford Med, Cardiovascular Medicine, Events, Genetics

A conversation about using genetics to advance cardiovascular medicine

A conversation about using genetics to advance cardiovascular medicine

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In recognition of American Heart Month, Stanford Health Care is hosting a heart fair on Saturday. The free community event includes a number of talks ranging in topic from the latest developments in treating atrial fibrillation to specific issues related to women’s heart health.

During the session on heart-disease prevention, Joshua Knowles, MD, PhD, will deliver a talk titled “How We Can (and Will) Use Genetics to Improve Cardiac Health.” Knowles’ research focuses on familial hypercholesterolemia, a genetic disease that causes a deadly buildup of cholesterol in the arteries. He and colleagues recently launched a project that uses a big-data approach to search electronic medical records and identify patients who may have the potentially fatal heart condition.

To kick off the conversation about preventing heart disease, I contacted Knowles to learn more about how the genomics revolution is changing the cardiovascular medicine landscape and what you can do to determine if you have a genetic heart disorder. Below he explains why heart disease is a “complex interplay between genetics and environment” and what the future may hold with respect to personalized treatments and pharmacogenetics.

Let’s start by talking about your work on familial hypercholesterolemia (FH). How has the understanding of the genetic basis of FH evolved over the last few years, and what key questions remain unanswered?

For FH, there has been a revolution in our understanding. FH causes very elevated cholesterol levels and risk of early onset heart disease. We used to think that it affected 1 in 500 individuals, but recent studies have pointed out that this is probably an underestimate and it may affect as many as 1 in 200 people. This means that there may be as many as 1 million people in the United States who are affected. We have also identified new genes that cause FH, and the identification of some of these genes has directly translated into the development of a new class of drugs (so called PCSK9 inhibitors) to treat this condition.

What steps can patients take to determine if they are at risk of, or may have, a genetic cardiovascular disorder like FH?

The easiest way is to know about your family history of medical conditions- to know what illnesses affected parents, grandparents, uncles, aunts and other relatives. Of course, genes aren’t the only things that are passed in families. Good and bad habits, such as exercise patterns, smoking and diet, are also passed down through the generations. But a family history of heart disease or certain forms of cancer is certainly a risk factor.

Past research suggests that patients with a genetic predisposition to heart disease can significantly reduce their chances of having a heart attack or stroke by making changes to their lifestyle, such as eating a diet rich in fruits and vegetables. Can lifestyle changes overcome genetics?

Heart disease is a result of the complex interplay between genetics and environment – lifestyle, for instance. For some people with specific genetic conditions, such as familial hypercholesterolemia or hypertrophic cardiomyopathy, the effect of genetics tends to dominate the effect of environment because the genetic effect is so large.

For the vast majority of people without these “Mendelian” forms of heart disease, which follow the laws of inheritance were derived by nineteenth-century Austrian monk Gregor Mendel, it’s difficult to determine at an individual level how much of the risk is due to genes and how much is due to environment (this is for things like high blood pressure, high cholesterol, coronary disease). One clue is certainly family history. However, for most of these diseases the genes are not “deterministic” – that is, people are not destined to have these diseases. Some are more at risk than others, but there are certainly ways to mitigate genetic risk through lifestyle choices. Choosing not to smoke and exercising regularly are two examples of ways you can help to greatly minimize genetic risk.

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Events, Science, Science Policy, Stanford News, Technology

The challenge – and opportunity – of regulating new ideas in science and technology

The challenge – and opportunity – of regulating new ideas in science and technology

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Innovation in science and technology holds promise to improve our lives. But disruptive business models, do-it-yourself medical devices, and open platforms also introduce corporate and personal risks. How can the public stay safe from unknown consequences as a company’s product or service matures? In a recent panel co-sponsored by Stanford’s Rock Center for Corporate Governance and Center for Law and the Biosciences, experts in law, business, and ethics discussed what happens when science and technology outrun the law.

Talk of drones, app-based car services, and music-sharing technologies teased out key issues currently disrupting legal paradigms. But biomedical science took center stage. “Health is more regulated than any other [area]” said panelist Hank Greely, JD, the Deane F. and Kate Edelman Johnson Professor of Law and director of the Center for Law and the Biosciences. He characterized the FDA’s processes as useful in slowing innovation in the health space but noted that rigorous pre-market regulation “won’t work in most parts of the economy.”

What happens when regulation is beyond reach? Greely noted that even if the FDA could limit an entrepreneurial company, it couldn’t conquer the DIY market. He referenced a procedure known as transcranial direct current stimulation, which, by applying electrodes to the head, can feel like “Adderall through a wire” or alter a person’s mood according to placement. A transmitting device is so simple to make, Greely said, “the hardest part will be finding an open Radio Shack.”

Moderator Dan Siciliano, JD, faculty director of the Rock Center and professor of the practice of law, asked the panelists which under-regulated technologies they found frightening. Vapor cigarettes, answered Eleanor Lacey, JD, for luring youth through fruit flavors and targeting them through advertising channels prohibited for regular cigarettes. (As previously reported on Scope, the FDA announced last spring that it would regulate the sale, but not marketing, of e-cigarettes.)

Lacey, vice president, general counsel and secretary of SurveyMonkey, discussed regulation issues involving health information that is transmitted on the company’s platform, where users own their data. She pointed to instances of users creating surveys on which respondents shared HIPAA-protected information, admitted suicidal thoughts, or confessed to crimes. The company cooperates with law enforcement in a very narrow set of sensitive situations but also upholds neutrality of the user-owned space and the user right to control the content: “You don’t want us to be able to shut it down,” Lacey said.

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CDC, Chronic Disease, Events, In the News, Patient Care, Research

Stanford expert to discuss systemic exertion intolerance disease (formerly chronic fatigue syndrome) during public call

Stanford expert to discuss systemic exertion intolerance disease (formerly chronic fatigue syndrome) during public call

telephone-158190_640Chronic fatigue syndrome is not only real, but it also has a new name: “systemic exertion intolerance disease” (SEID). The weeks-old name change was heralded by an Institute of Medicine report, which was reviewed by Stanford’s José Montoya, MD.

Montoya will discuss the disease, the name change, and some of Stanford’s work on SEID, in a “patient-centered” conference call sponsored by the CDC on Monday afternoon. He’ll be joined by the CDC’s Elizabeth Unger, PhD, MD, chief of the chronic viral diseases branch.

The public is welcome to join in, and listeners will be able to submit questions during the conference call, which begins at noon Pacific time.

More details, including the call-in number, can be found on the CDC’s website.

Previously: Chronic fatigue syndrome gets more respect (and a new name), Some headway on chronic fatigue syndrome: Brain abnormalities pinpointed, Unbroken: A chronic fatigue syndrome patient’s long road to recovery and Patients’ reaction to ME/CFS coverage in Stanford Medicine magazine
Photo by OpenClips

Ask Stanford Med, Events, Nutrition, Obesity, Stanford News

Sticky situation: How sugar affects our health

Sticky situation: How sugar affects our health

132244825_dbf0e21d9f_zHere’s a shocking statistic: On average, Americans consume three pounds of sugar each week, or 3,550 pounds in an entire lifetime. This leads some to blame the sweet stuff for the increase of chronic disease in modern society. But simply reducing our sugar intake is easier said than done, in part because identifying foods with added sugars can be tricky.

This Thursday, Alison Ryan, a clinical dietician with Stanford Health Care, will deliver an in-depth talk on sugar and our health as part of a Stanford Health Library lecture series. Those unable to attend can watch the presentation online here.

In the following Q&A, Ryan discusses the controversies surrounding sugar and the role of sugar in our diet, and she offers tips for making sure your consumption doesn’t exceed daily guidelines.

Why does our body need sugar?

Sugar, in the form of dextrose or glucose, is the main fuel or energy source for the cells of the human body. Without glucose, our body has to get creative and rely on other metabolic pathways, like ketosis, to keep our brain and other organs running. There is an optimal range for our blood sugar levels, and our bodies are making constant efforts to keep blood sugar within this range.

Our body can make glucose from any carbohydrate that is consumed, so consuming monosaccharide (glucose and the like) is not biologically required. This is one of the reasons it’s difficult to determine the right amount of sugar that is required for the human body. Do we think of the optimal amount as the amount needed to function at peak level? Or an amount not to go over in order to avoid detrimental effects on our health?

Sugar intake has been on the rise in human diets. Why do you think that is?

At one time, sugar used to be a seldom available food item. It is now ubiquitous and more of a hallmark for highly processed, low nutritional value foods. Now, consider the food industry and the politics of sugar. Soda companies, makers of desserts, cakes, sugary snack foods, the sugar and corn syrup refiners all lobby to keep their products “part of a balanced diet.” The food industry is deeply involved (or at least vocal about) the food and nutrition guidelines in the U.S. Then there’s the reality that sugar tastes good! Most people enjoy the taste of sweet foods and are drawn to consuming them.

What are some of the health risks of consuming too much sugar?

Sugar has been implicated as playing a role in some obvious ways, like obesity, diabetes, and tooth decay; but also in less direct appearing ways such as heart disease, chronic inflammatory conditions, cancer, etc. Often, when we’re consuming foods high in sugar, we’re not consuming foods that are rich in nutrients. These calorie-dense foods displace the nutrient-dense foods. The net effect is higher intake of calories, with concurrent lower intake of vitamins, minerals, phytonutrients, protein, etc.

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Events, Research, Science, Stanford News, Stem Cells

Live tweeting Stanford speakers at AAAS meeting

Live tweeting Stanford speakers at AAAS meeting

Whether you plan to spend the weekend wallowing in work, or canoodling on the couch (Happy Valentine’s Day!), you can follow Stanford Medicine researchers at the AAAS Annual Meeting, a gathering of thousands of scientists that will be held this weekend in San Jose.

Kicking off Friday (the conference officially began today), we’ll be live tweeting from the panel discussion “Informatics and Bioimaging: New Ways to Better Medicines,” featuring Stanford bioengineer Russ Altman, MD, PhD, from 10 to 11:30 `a.m.

Take a break for lunch, then check in to hear Steve Goodman, MD, PhD, Stanford’s associate dean of clinical and translational research, discussing “Responsible Data-Sharing for Clinical Trials” from 3 to 4:30 p.m.

Early Saturday, join Christopher Scott, PhD, director of the Stanford University Program on Stem Cells in in Society, as he addresses “Challenges in Communicating about Stem Cells” from 8 to 9:30 a.m.

Finally on Sunday, we’ll be tweeting as John Ioannidis, MD, DSc, director of the Stanford Prevention Research Center, discusses the “Reproducibility of Science: A Roadmap Forward” from 1 to 2:30 p.m.

We’ll sprinkle in other tweets throughout the weekend, and we’ll follow-up with a series of blog posts about the various talks. You can follow the tweets on the @StanfordMed feed or by using the hashtag #AAASmtg.

Previously: Live tweeting sessions at Stanford’s Med School 101, Live tweeting Jack Andraka’s Medicine X keynote and Live tweeting Big Data in Biomedicine

Big data, Events, Pediatrics, Pregnancy, Research, Stanford News

Stanford hosts inaugural Childx conference this spring

Stanford hosts inaugural Childx conference this spring

Chandler's 15 Month CheckupRegistration is now open for the first ever Childx conference, a TED-style conference focused on inspiring innovation in pediatric and maternal health. The conference will bring thought leaders from several disciplines to the Stanford campus April 2 and 3 for two days of conversation about how to harness many branches of medicine to solve the health problems of pregnancy, infancy and childhood.

“Pediatric medicine faces unique challenges,” said systems biology researcher Dennis Wall, PhD, who leads the conference’s scientific advisory board. “Most children are quite healthy, which can make it difficult to attract adequate research attention to severe pediatric diseases that affect relatively few children. At the same time, every child’s health status is influenced by a complex array of factors, which cause decades-long ripple effects as today’s children mature into tomorrow’s adults.”

The conference, developed and sponsored by Stanford’s Child Health Research Institute, has five themes:

  • Definitive stem cell and gene therapy for child health
  • The arc of fetal, developmental/cognitive, and adult health
  • Accelerating child and maternal health innovation
  • Precision medicine for rare and historically untreatable childhood disease
  • The health ecosystem and the impact of social, economic, political, environmental, and cultural issues on children’s health and well-being

Featured guests include Martin Andrews, who leads Glaxo Smith Kline‘s rare diseases team; Nadia Rosenthal, PhD, founding director of the Australian Regenerative Medicine Institute; Harvard’s Matthew Gillman, MD, an expert on early-life prevention of chronic disease; Sheena Josselyn, PhD, a neuroscientist at the University of Toronto and the Hospital for Sick Children who studies molecular processes behind learning and memory; and Donald Schwarz, MD, the director of the Robert Wood Johnson Foundation, as well as a large cast of Stanford stars from several areas of pediatric medicine.

“Pediatric medicine needs to turn its focus more to creating advanced, technology-enabled solutions that will increase our ability to detect, monitor and treat child health,” Wall said. “No pediatric conference to-date has combined these key themes of precision healthcare with the most pressing challenges and opportunities in child and maternal health. The inaugural Childx will be the first conference to do so.”

The conference will welcome maternal and child health researchers, clinicians, investors, industry experts and interested community members. Early bird registration is open through February 28.

Events, In the News, Medicine and Society, Stanford News

Panel on diversity calls for transformative change in society, courageous leadership from individuals

Panel on diversity calls for transformative change in society, courageous leadership from individuals

diversity-33606_1280The School of Medicine’s quest to boost all forms diversity stems from two distinct, yet related, imperatives, Dean Lloyd B. Minor, MD, told the 100-or-so students and faculty members at the second Town Hall on Diversity last evening.

First, it’s part of the school’s mission, Minor said. “We have an obligation, a responsibility to ensuring we’re promoting diversity in our society,” Minor said. “We do that through the students we admit, the faculty we hire, to the way we speak.”

But of equal importance: Without diversity, Stanford Medicine just wouldn’t be Stanford Medicine, Minor said.

“Imagine what we would be like if we had a group of monolithically thinking people,” he said. From a melting pot of backgrounds and opinions and personalities comes innovation, challenges and excellence.

To ensure this melting pot, Stanford Medicine must stand strong against a society that is perhaps even regressing in its views on race and bias, said sociologist Doug McAdam, PhD, one of two panelists who fielded questions from the audience and moderators Malcolm Pyles, president of Student University Minority Medical Alliance, and Julie Huang, president Biomedical Association for the Interest of Minority Students.

Everyone who hopes to make a change must leave their comfort zone, McAdam said. “These are not normal times,” McAdam  told the audience. “I think they call for us to step outside our [normal] roles.”

That means everyone must consider how they support — even through unconscious biases — the current system and take steps to counter it, he said.

Paula Moya, PhD, an associate professor of English, emphasized that the role of the university is different from the job of a budding researchers or doctor.

“The university has the obligation to make these topics of conversation,” she said. “Students have the responsibility to learn about history and how what you do on a daily basis affects the maintenance of pernicious ideas like race.”

Both panelists recently published books on race. McAdam is a co-author of Deeply Divided: Social Movements and Racial Politics in Post-War America, while Moya penned Doing Race: 21 Essays for the 21st Century and has another book coming out this year.

Previously: Intel’s Rosalind Hudnell kicks off Dean’s Lecture Series on diversity, The medical community and complicity: Our role in the Eric Garner case, Diversity is initial focus of new Stanford lecture seriesLloyd B. Minor, Stanford medical school’s dean, shares five principles of leadership and NIH selects Hannah Valantine as first chief officer for scientific workforce diversity
Photo by Nemo

Events, Immunology, Infectious Disease, Microbiology, Public Health

A look at our disappearing microbes

A look at our disappearing microbes

8146322408_5312e9deb2_zCould obesity, asthma, allergies, diabetes, and certain forms of cancer all share a common epidemiological origin? NYU microbiologist Martin Blaser, MD, thinks so – he calls these “modern plagues” and traces them to a diminished microbial presence in our bodies, caused by the overuse of antibiotics and the increased incidence of caesarian sections.

I attended a recent public lecture sponsored by UC Santa Cruz’s Microbiology and Environmental Toxicology department, during which the charismatic Blaser cited statistics about antibiotic use in childhood. Alarmingly, American children receive on average seventeen courses of antibiotics before they are twenty years old, taking a progressively bigger toll on their internal microbial ecosystems. We also have an unprecedented rate of c-sections – at nearly 33 percent. Babies delivered this way are deprived of contact with their mothers’ vaginal microbes, which in vaginal deliveries initiates the infant’s intestinal, respiratory, and skin flora. Breastfeeding has implications for beneficial bacterial transfer, too.

It’s not news that antibiotics are being overused – Stanford Medicine hosts an Antimicrobial Stewardship Program dedicated to this cause, and the CDC has been hosting a campaign for awareness about appropriate antibiotic use for several years, including their use in farm animals. (Seventy to eighty percent of antibiotic use takes place on farms to promote growth – that is, not for veterinary reasons.)

Overuse leads to antibiotic resistance, a serious problem. Meanwhile, research by Blaser and others – notably Stanford microbiologist David Relman, MD – has shown that abundant bacterial and viral life is essential to healthy bodies, and that imbalances in the microbial ecosystems that inhabit our gut play an important role in the chronic diseases of the modern age. Blaser said he is concerned that we’re going down a path where each generation has fewer and fewer species of microbes; part of his research is to compare human gut biodiversity in different parts of the globe, and people in remote areas of New Guinea have far more variety than those in Western nations.

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Events, In the News, Medical Education, Medicine and Society

Intel’s Rosalind Hudnell kicks off Dean’s Lecture Series on diversity

Intel's Rosalind Hudnell kicks off Dean's Lecture Series on diversity

STANFORD, CA - JANUARY 23, 2015--Rosalind Hudnell ? Chief Diversity Officer, Global Director of Education and External Relations at Intel Corporation, gives a speech on the Fresh Perspectives on Diversity at Dean?s Lecture Series on Friday, January 23, 2015, at Stanford School of Medicine at Berg Hall. ( Norbert von der Groeben/ Stanford School of Medicine )

In 1971, just three years after the death of Martin Luther King, Jr., ninth-grader Lloyd B. Minor was bussed from his white Little Rock, Arkansas neighborhood to a formerly black school. What he saw there stuck in his memory: Plaster peeled off the walls, and the library had only a few tattered books.

“What I had been told was separate but equal was certainly separate, but in no way was it equal,” Minor said. “That caused me then to see that diversity is a moral imperative.”

Now, as dean of Stanford’s School of Medicine, Minor, MD, has made diversity the initial focus of the newly launched Dean’s Lecture Series.

“Diversity is at the core of everything we do,” Minor said at the inaugural lecture last Friday. “To be a highly performing organization, we have to embrace diversity because… creativity doesn’t come from a monolithic, stereotypic focus.”

The featured speaker at the first lecture was Rosalind Hudnell, chief diversity officer and global director of education and external relations at Intel.

“I’m so jealous of the representation of women and people of color in medicine,” Hudnell told the audience. Nearly every child wants, maybe just for a moment, to be a doctor, inspired by the respect the profession commands in society and its portrayal on popular television shows from Marcus Welby, M.D. to Grey’s Anatomy, she said. By contrast, about 40 percent of college students drop out of engineering after the first year.

In 2013, Intel’s approximately 100,000 employees were 76 percent male and 86 percent white or Asian, and Hudnell said Intel has been working hard to diversify its workforce. The company recently captured headlines by pledging $300 million over three years to recruit and retain more minorities and women.

“We’ve spent the last decade building capability,” Hudnell explained. “Then, we stepped back and said, ‘So, why aren’t we better?’”

The key is to set goals and hold everyone accountable, she said. Now, Intel is committed to reaching market representation across its workforce by 2020. Hudnell admitted she isn’t quite sure how that’s going to happen, but she’s confident it will. “It’s time to use our capability and lead.”

And in that regard, she believes Stanford’s School of Medicine has an advantage. “I think, quite frankly, you are incredibly blessed and lucky to have a leader who truly gets it,” Hudnell commented. “It really does take a consistent, resilient leader… They must have a personal belief in their soul and in their DNA that diversity is the ultimate goal.”

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Events, Medical Education, Medical Schools, Stanford News, Videos

What’s it like to be an internal medicine resident at Stanford?

What's it like to be an internal medicine resident at Stanford?

“I remember being in your shoes,” Ronald Witteles, MD, said to prospective residents during a recent Google+ Hangout sponsored by the Stanford Internal Medicine Residency program. “I really felt that Stanford was the best fit for me, so I crossed my fingers and came out here. It’s been everything I hoped it could be and more.”

Witteles is the resident program director, and he joined a panel of faculty, residents, and physicians to share stories and answer questions from prospective residents and the interested public about life at Stanford.

During the Hangout, department chair Robert Harrington, MD, spent time discussing Stanford’s tradition of innovation – highlighting the Biodesign program, a collaboration between the School of Medicine and the School of Engineering, and the Department of Medicine’s Clinical Excellence Research Center, which organizes research teams to discover and design new methods of health-care delivery. When asked to comment on the school’s innovative reputation, he replied: “There is a spirit of innovation across the residency, across the department, and across the university that I think is unique, and is one of our defining characteristics.”

Several programmatic changes were also addressed during the hour-long conversation. Witteles talked about a new initiative called Pathways of Distinction, or POD, which will allow residents to select one of seven individualized pathways that align with their academic and professional interests. Each POD, he explained, will provide residents with a unique opportunity for mentorship and development outside of their primary education in internal medicine.

Additional audience questions ranged from the level of autonomy afforded to residents (the answer: a significant amount, but you’re never left by yourself), to favorite things about Palo Alto, which garnered enthusiastic group consensus about the vibrant food scene and the close proximity to nature. Watch the full conversation above.

Previously: Stanford Internal Medicine Residency program to host Google+ Hangout

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